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Triosephosphate isomerase deficiency: Repetitive occurrence of point mutation in amino acid 104 in multiple apparently unrelated families
Author(s) -
Schneider Arthur,
Westwood Beryl,
Yim Catherine,
Prchal Josef,
Berkow Roger,
Labotka Richard,
Warrier Rajasekharan,
Beutler Ernest
Publication year - 1995
Publication title -
american journal of hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.456
H-Index - 105
eISSN - 1096-8652
pISSN - 0361-8609
DOI - 10.1002/ajh.2830500407
Subject(s) - triosephosphate isomerase , point mutation , mutation , polymerase chain reaction , genetics , biology , amino acid , amino acid substitution , gene
The molecular basis of triosephosphate isomerase (TPI) deficiency was studied in 3 patients from three separate families. In all 3 patients, genomic DNA directly sequenced after amplification by the polymerase chain reaction exhibited the point mutation TPI 315C amino acid 104 Glu→Asp. Although other mutations known to cause TPI deficiency have been restricted to single families, the amino acid 104 defect has now been described in nine apparently unrelated families throughout the world and is clearly the most frequently occurring form of the disorder. The basis of the repetitive occurrence of this mutation remains unexplained.